Appropriate Use of Genetic Testing in Congenital Heart Disease Patients

  • Seiji Ito
  • Kimberly A. Chapman
  • Monisha Kisling
  • Anitha S. John
Congenital Heart Disease (RA Krasuski, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Congenital Heart Disease

Abstract

Purpose of Review

Congenital heart disease (CHD) remains the most common birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely unknown, it is thought to be an interaction of genetic and non-genetic factors. The purposes of this review are to summarize recent advances in CHD genetics and testing and to present a suggested algorithm for appropriate use of genetic testing in patients with CHD.

Recent Findings

Advances in genetic testing technology are rapidly expanding the options for screening and are providing further insights into the genetic and molecular background of non-syndromic CHD. As the field advances, the role of the geneticist and genetic counselor will continue to expand as the testing becomes more complex and interpretation of results becomes increasingly challenging.

Summary

Coordination of practice between cardiologists and geneticists using a shared clinical structure is essential and will help improve cost utilization and facilitate individualized patient care.

Keywords

Congenital heart disease Genetic testing Genetic counseling 

Supplementary material

11886_2017_834_MOESM1_ESM.docx (291 kb)
ESM 1Appendix Table 1. Easily internet accessible genetic resources (not necessarily all inclusive). Appendix Table 2. Genetic testing types and strengths and weakness. Appendix Table 3. Genetic changes identified to have CHD and some of these differences. (DOCX 290 kb)

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Seiji Ito
    • 1
  • Kimberly A. Chapman
    • 2
  • Monisha Kisling
    • 2
  • Anitha S. John
    • 1
  1. 1.Division of Pediatric CardiologyChildren’s National Health SystemWashingtonUSA
  2. 2.Division of Genetics and MetabolismChildren’s National Health SystemWashingtonUSA

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